Mutagenetix > Incidental Mutation

Incidental Mutation 'R8146:Prag1'

632810

Institutional Source

Beutler Lab

Gene Symbol

Prag1

Ensembl Gene

ENSMUSG00000050271

Gene Name

PEAK1 related kinase activating pseudokinase 1

Synonyms

D8Ertd82e, NACK

MMRRC Submission

067574-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8146 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36561982-36614941 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 36571364 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 649 (L649R)

Ref Sequence

ENSEMBL: ENSMUSP00000106118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110492]

AlphaFold

Q571I4

Predicted Effect

probably damaging
Transcript: ENSMUST00000110492
AA Change: L649R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106118
Gene: ENSMUSG00000050271
AA Change: L649R

Domain	Start	End	E-Value	Type
low complexity region	317	333	N/A	INTRINSIC
low complexity region	395	412	N/A	INTRINSIC
low complexity region	525	544	N/A	INTRINSIC
low complexity region	781	793	N/A	INTRINSIC
low complexity region	892	925	N/A	INTRINSIC
Pfam:Pkinase_Tyr	1060	1288	1.7e-7	PFAM
Pfam:Pkinase	1061	1293	1.5e-13	PFAM
low complexity region	1363	1373	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that belongs to the tyrosine protein kinase family. A similar protein in rat binds to Rho family GTPase 2 (Rnd2) and regulates neurite outgrowth via activation of Ras homolog gene family, member A (RhoA). [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygous disruption of this gene leads to complete embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	G	2: 19,498,814 (GRCm39)	E393A	possibly damaging	Het
4930550C14Rik	A	G	9: 53,334,270 (GRCm39)	D171G	probably damaging	Het
Abca13	T	C	11: 9,347,829 (GRCm39)	Y3561H	probably damaging	Het
Adgra2	T	A	8: 27,604,202 (GRCm39)	V464D	probably damaging	Het
Adgrl1	C	A	8: 84,657,618 (GRCm39)	T408N	possibly damaging	Het
Anks1b	G	A	10: 90,143,560 (GRCm39)	R523Q	probably damaging	Het
Anks6	C	A	4: 47,043,605 (GRCm39)	A375S	unknown	Het
Bbs10	T	A	10: 111,136,396 (GRCm39)	I503K	probably benign	Het
Birc2	A	G	9: 7,818,797 (GRCm39)	I598T	probably damaging	Het
Cbl	A	T	9: 44,076,171 (GRCm39)	D339E	probably damaging	Het
Cdh4	C	A	2: 179,515,871 (GRCm39)	Q350K	possibly damaging	Het
Cep78	A	G	19: 15,933,727 (GRCm39)	L617P	probably damaging	Het
Cnbd2	T	G	2: 156,170,281 (GRCm39)	V122G	probably damaging	Het
Crem	A	T	18: 3,288,007 (GRCm39)	N158K	possibly damaging	Het
Cul1	T	C	6: 47,472,027 (GRCm39)	V56A	possibly damaging	Het
Dop1b	T	A	16: 93,546,827 (GRCm39)	I277N	possibly damaging	Het
Exoc3	T	C	13: 74,340,784 (GRCm39)	D340G	probably benign	Het
Exoc6b	A	C	6: 84,885,176 (GRCm39)	D254E	probably benign	Het
Fyttd1	A	G	16: 32,722,862 (GRCm39)	K268E	probably damaging	Het
Gbp8	T	A	5: 105,178,844 (GRCm39)	N157I	probably benign	Het
Hacd1	T	A	2: 14,049,605 (GRCm39)	S118C	probably damaging	Het
Hcn4	A	C	9: 58,731,027 (GRCm39)	E78A	unknown	Het
Inpp5e	T	A	2: 26,289,274 (GRCm39)	T549S	probably benign	Het
Kcnh4	T	C	11: 100,646,105 (GRCm39)	N281S	probably damaging	Het
Kdm5b	A	G	1: 134,552,864 (GRCm39)	D1280G	probably benign	Het
Lrfn3	A	G	7: 30,059,304 (GRCm39)	V307A	probably benign	Het
Mafb	A	G	2: 160,208,298 (GRCm39)	L100P	probably damaging	Het
Med24	C	T	11: 98,608,940 (GRCm39)	G119R	probably benign	Het
Mvp	G	T	7: 126,586,171 (GRCm39)	P866Q	probably benign	Het
Or51l4	A	G	7: 103,404,510 (GRCm39)	I94T	probably damaging	Het
Phykpl	T	C	11: 51,476,408 (GRCm39)	Y43H	probably damaging	Het
Ptgdr2	T	C	19: 10,918,361 (GRCm39)	F293L	probably damaging	Het
Rasip1	T	G	7: 45,279,704 (GRCm39)	S316A	possibly damaging	Het
Rlf	G	A	4: 121,004,429 (GRCm39)	S1627L	probably benign	Het
Rtl1	T	C	12: 109,557,145 (GRCm39)	R1565G	probably benign	Het
Sart3	G	A	5: 113,886,018 (GRCm39)	T572M	probably damaging	Het
Sec24b	G	T	3: 129,789,573 (GRCm39)	S816*	probably null	Het
Slamf1	C	T	1: 171,619,887 (GRCm39)	P279L	probably benign	Het
Slc18a1	C	A	8: 69,495,401 (GRCm39)	V368F	possibly damaging	Het
Tap1	A	T	17: 34,408,206 (GRCm39)	D194V	probably damaging	Het
Tuba1c	A	G	15: 98,935,496 (GRCm39)	Y319C	probably damaging	Het
Unc79	T	A	12: 103,036,416 (GRCm39)	I579N	probably damaging	Het
Zbtb22	G	T	17: 34,135,956 (GRCm39)	V34L	probably damaging	Het

Other mutations in Prag1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Prag1	APN	8	36,567,085 (GRCm39)	missense	probably benign	0.01
IGL01132:Prag1	APN	8	36,613,511 (GRCm39)	missense	probably damaging	1.00
IGL01322:Prag1	APN	8	36,571,088 (GRCm39)	missense	probably benign	0.01
IGL01343:Prag1	APN	8	36,570,200 (GRCm39)	missense	possibly damaging	0.95
IGL01726:Prag1	APN	8	36,570,146 (GRCm39)	missense	probably damaging	1.00
IGL01739:Prag1	APN	8	36,569,834 (GRCm39)	missense	probably benign	0.00
IGL02420:Prag1	APN	8	36,614,580 (GRCm39)	utr 3 prime	probably benign
IGL02433:Prag1	APN	8	36,606,722 (GRCm39)	missense	probably damaging	1.00
IGL02627:Prag1	APN	8	36,606,593 (GRCm39)	missense	possibly damaging	0.93
IGL02797:Prag1	APN	8	36,606,655 (GRCm39)	missense	probably damaging	1.00
IGL03070:Prag1	APN	8	36,570,703 (GRCm39)	missense	probably benign	0.01
IGL03323:Prag1	APN	8	36,607,162 (GRCm39)	missense	probably damaging	1.00
FR4340:Prag1	UTSW	8	36,571,040 (GRCm39)	small insertion	probably benign
FR4548:Prag1	UTSW	8	36,571,039 (GRCm39)	small insertion	probably benign
FR4589:Prag1	UTSW	8	36,571,037 (GRCm39)	small insertion	probably benign
FR4976:Prag1	UTSW	8	36,571,037 (GRCm39)	small insertion	probably benign
R0325:Prag1	UTSW	8	36,570,958 (GRCm39)	missense	probably benign	0.00
R0486:Prag1	UTSW	8	36,613,787 (GRCm39)	missense	probably damaging	1.00
R0506:Prag1	UTSW	8	36,570,854 (GRCm39)	missense	possibly damaging	0.92
R0507:Prag1	UTSW	8	36,571,277 (GRCm39)	missense	probably damaging	1.00
R0595:Prag1	UTSW	8	36,614,156 (GRCm39)	missense	probably damaging	1.00
R0618:Prag1	UTSW	8	36,566,987 (GRCm39)	missense	probably damaging	1.00
R0618:Prag1	UTSW	8	36,566,987 (GRCm39)	missense	probably damaging	1.00
R0885:Prag1	UTSW	8	36,570,421 (GRCm39)	missense	probably benign	0.00
R1015:Prag1	UTSW	8	36,613,697 (GRCm39)	missense	probably damaging	1.00
R1168:Prag1	UTSW	8	36,613,799 (GRCm39)	missense	probably damaging	1.00
R1182:Prag1	UTSW	8	36,614,413 (GRCm39)	missense	possibly damaging	0.95
R1227:Prag1	UTSW	8	36,607,105 (GRCm39)	missense	probably damaging	1.00
R1282:Prag1	UTSW	8	36,567,068 (GRCm39)	missense	probably damaging	0.96
R1469:Prag1	UTSW	8	36,613,452 (GRCm39)	splice site	probably benign
R1656:Prag1	UTSW	8	36,571,500 (GRCm39)	missense	probably damaging	1.00
R1660:Prag1	UTSW	8	36,607,177 (GRCm39)	missense	possibly damaging	0.73
R1676:Prag1	UTSW	8	36,570,052 (GRCm39)	missense	probably damaging	0.96
R1820:Prag1	UTSW	8	36,570,958 (GRCm39)	missense	probably benign	0.00
R1970:Prag1	UTSW	8	36,596,314 (GRCm39)	splice site	probably null
R1974:Prag1	UTSW	8	36,570,081 (GRCm39)	missense	probably damaging	1.00
R4398:Prag1	UTSW	8	36,570,809 (GRCm39)	missense	probably damaging	1.00
R4429:Prag1	UTSW	8	36,613,796 (GRCm39)	missense	probably damaging	1.00
R4627:Prag1	UTSW	8	36,570,446 (GRCm39)	missense	probably damaging	1.00
R4980:Prag1	UTSW	8	36,606,740 (GRCm39)	missense	probably damaging	1.00
R5131:Prag1	UTSW	8	36,607,123 (GRCm39)	missense	probably damaging	1.00
R5215:Prag1	UTSW	8	36,567,043 (GRCm39)	missense	probably benign	0.06
R5346:Prag1	UTSW	8	36,570,839 (GRCm39)	missense	probably damaging	1.00
R5414:Prag1	UTSW	8	36,606,776 (GRCm39)	missense	probably benign	0.00
R5535:Prag1	UTSW	8	36,571,168 (GRCm39)	missense	probably benign
R5687:Prag1	UTSW	8	36,613,967 (GRCm39)	missense	probably benign	0.02
R5785:Prag1	UTSW	8	36,570,641 (GRCm39)	missense	probably benign	0.35
R5817:Prag1	UTSW	8	36,570,857 (GRCm39)	missense	probably damaging	1.00
R6002:Prag1	UTSW	8	36,571,337 (GRCm39)	missense	probably benign	0.31
R6127:Prag1	UTSW	8	36,614,555 (GRCm39)	missense	unknown
R6240:Prag1	UTSW	8	36,570,506 (GRCm39)	missense	probably benign	0.03
R6277:Prag1	UTSW	8	36,613,745 (GRCm39)	missense	probably damaging	1.00
R6326:Prag1	UTSW	8	36,569,860 (GRCm39)	missense	possibly damaging	0.79
R6741:Prag1	UTSW	8	36,614,434 (GRCm39)	missense	probably benign	0.41
R6925:Prag1	UTSW	8	36,571,048 (GRCm39)	missense	probably damaging	1.00
R7085:Prag1	UTSW	8	36,571,391 (GRCm39)	missense	possibly damaging	0.71
R7095:Prag1	UTSW	8	36,569,714 (GRCm39)	missense	probably benign
R7204:Prag1	UTSW	8	36,613,915 (GRCm39)	missense	probably benign	0.03
R7213:Prag1	UTSW	8	36,613,769 (GRCm39)	missense	probably damaging	0.99
R7567:Prag1	UTSW	8	36,569,760 (GRCm39)	missense	possibly damaging	0.68
R7577:Prag1	UTSW	8	36,614,096 (GRCm39)	missense	probably damaging	1.00
R7783:Prag1	UTSW	8	36,570,409 (GRCm39)	missense	possibly damaging	0.66
R8152:Prag1	UTSW	8	36,567,079 (GRCm39)	missense	possibly damaging	0.53
R8157:Prag1	UTSW	8	36,614,393 (GRCm39)	missense	probably damaging	0.99
R8332:Prag1	UTSW	8	36,613,457 (GRCm39)	missense	probably damaging	1.00
R8821:Prag1	UTSW	8	36,613,891 (GRCm39)	missense	probably benign
R8831:Prag1	UTSW	8	36,613,891 (GRCm39)	missense	probably benign
R8927:Prag1	UTSW	8	36,614,360 (GRCm39)	missense	probably damaging	1.00
R8928:Prag1	UTSW	8	36,614,360 (GRCm39)	missense	probably damaging	1.00
R8973:Prag1	UTSW	8	36,566,744 (GRCm39)	start gained	probably benign
R9516:Prag1	UTSW	8	36,607,208 (GRCm39)	missense	probably damaging	1.00
R9596:Prag1	UTSW	8	36,570,113 (GRCm39)	missense	probably damaging	1.00
R9598:Prag1	UTSW	8	36,571,069 (GRCm39)	missense	probably benign	0.20
Z1177:Prag1	UTSW	8	36,614,296 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTCTTCAGTCTTGGACCAG -3'
(R):5'- TCCTGAGAGGCAGCAAATG -3'

Sequencing Primer
(F):5'- TTCAGTCTTGGACCAGAGGCG -3'
(R):5'- CAGCAAATGCAAAGGTTTCTGG -3'

Posted On

2020-06-30